"Ambry Genetics"[submitter] AND "GLT1D1"[gene] - ClinVar

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Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2220212	NM_001366886.1(GLT1D1):c.88G>T (p.Gly30Trp)	GLT1D1 (G30W)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2240197	NM_001366886.1(GLT1D1):c.99C>G (p.Cys33Trp)	GLT1D1 (C33W)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3100355	NM_001366886.1(GLT1D1):c.100G>A (p.Val34Ile)	GLT1D1 (V34I)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 2336473	NM_001366886.1(GLT1D1):c.107A>T (p.Lys36Met)	GLT1D1 (K36M)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2472571	NM_001366886.1(GLT1D1):c.208C>T (p.Leu70Phe)	GLT1D1 (L70F)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2611164	NM_001366886.1(GLT1D1):c.224G>A (p.Arg75Gln)	GLT1D1 (R33Q +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3281648	NM_001366886.1(GLT1D1):c.248G>A (p.Gly83Asp)	GLT1D1 (G83D +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2474759	NM_001366886.1(GLT1D1):c.322A>G (p.Arg108Gly)	GLT1D1 (R66G +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3281649	NM_001366886.1(GLT1D1):c.331G>A (p.Val111Ile)	GLT1D1 (V69I +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2373287	NM_001366886.1(GLT1D1):c.368C>T (p.Ala123Val)	GLT1D1 (A81V +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2492903	NM_001366886.1(GLT1D1):c.617T>C (p.Val206Ala)	GLT1D1 (V126A +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2372356	NM_001366886.1(GLT1D1):c.712G>A (p.Val238Met)	GLT1D1 (V102M +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2589930	NM_001366886.1(GLT1D1):c.758G>T (p.Gly253Val)	GLT1D1 (G253V +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3100357	NM_001366886.1(GLT1D1):c.800C>T (p.Pro267Leu)	GLT1D1, LOC126861685 (P187L +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2399131	NM_001366886.1(GLT1D1):c.805T>A (p.Leu269Met)	GLT1D1, LOC126861685 (L133M +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3100358	NM_001366886.1(GLT1D1):c.835G>C (p.Val279Leu)	GLT1D1, LOC126861685 (V143L +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2603064	NM_001366886.1(GLT1D1):c.835G>A (p.Val279Met)	GLT1D1, LOC126861685 (V279M +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3100359	NM_001366886.1(GLT1D1):c.854C>A (p.Thr285Lys)	GLT1D1, LOC126861685 (T205K +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2380649	NM_001366886.1(GLT1D1):c.937G>A (p.Val313Ile)	GLT1D1 (V177I +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2353989	NM_001366886.1(GLT1D1):c.991G>C (p.Asp331His)	GLT1D1 (D331H +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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Items: 20